Sacs R272C missense homozygous mice develop an ataxia phenotype

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1756-6606

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Sacs R272C missense homozygous mice develop an ataxia phenotype ; volume:12 ; number:1 ; day:12 ; month:3 ; year:2019 ; pages:1-15 ; date:12.2019
Molecular brain ; 12, Heft 1 (12.3.2019), 1-15, 12.2019

Creator: Larivière, Roxanne
Sgarioto, Nicolas
Márquez, Brenda Toscano
Gaudet, Rébecca
Choquet, Karine
McKinney, R. Anne
Watt, Alanna J.
Brais, Bernard

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13041-019-0438-3

URN: urn:nbn:de:101:1-2019040700380240702258

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:59 AM CEST

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Associated

Larivière, Roxanne
Sgarioto, Nicolas
Márquez, Brenda Toscano
Gaudet, Rébecca
Choquet, Karine
McKinney, R. Anne
Watt, Alanna J.
Brais, Bernard
SpringerLink (Online service)

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Sacs R272C missense homozygous mice develop an ataxia phenotype

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Other Objects (12)

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A rare homozygous missense mutation of COL7A1 in a Vietnamese family

Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

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Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

A rare homozygous missense mutation of COL7A1 in a Vietnamese family

Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A

A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family

Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report

Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5

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Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant

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Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family

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Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5

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